Incidental Mutation 'IGL00338:Slc22a26'
ID 3260
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a26
Ensembl Gene ENSMUSG00000053303
Gene Name solute carrier family 22 (organic cation transporter), member 26
Synonyms BC014805
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # IGL00338
Quality Score
Status
Chromosome 19
Chromosomal Location 7758406-7780032 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 7760340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 468 (L468I)
Ref Sequence ENSEMBL: ENSMUSP00000113607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065634] [ENSMUST00000120522]
AlphaFold Q91WJ2
Predicted Effect probably benign
Transcript: ENSMUST00000065634
AA Change: L469I

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000064809
Gene: ENSMUSG00000053303
AA Change: L469I

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
low complexity region 53 64 N/A INTRINSIC
Pfam:Sugar_tr 96 528 1.1e-23 PFAM
Pfam:MFS_1 124 370 7.8e-17 PFAM
Pfam:MFS_1 350 547 2.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120522
AA Change: L468I

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113607
Gene: ENSMUSG00000053303
AA Change: L468I

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
low complexity region 53 64 N/A INTRINSIC
Pfam:Sugar_tr 94 527 4.9e-23 PFAM
Pfam:MFS_1 124 358 1.2e-15 PFAM
Pfam:MFS_1 349 547 2.4e-12 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd11 A G 5: 135,040,839 (GRCm39) D217G probably benign Het
Ankar T A 1: 72,729,290 (GRCm39) Y285F probably damaging Het
Ano8 C A 8: 71,936,902 (GRCm39) probably benign Het
Bche A G 3: 73,608,640 (GRCm39) V262A probably benign Het
Car13 T C 3: 14,721,964 (GRCm39) probably benign Het
Cd244a T A 1: 171,401,938 (GRCm39) probably null Het
Cfap157 T C 2: 32,671,395 (GRCm39) D137G probably damaging Het
Cobl T C 11: 12,325,813 (GRCm39) R119G possibly damaging Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Gp2 A G 7: 119,053,613 (GRCm39) M116T probably damaging Het
Gp5 C A 16: 30,127,640 (GRCm39) A345S probably benign Het
Gphn A T 12: 78,551,406 (GRCm39) I285F probably damaging Het
Heatr5b A G 17: 79,110,863 (GRCm39) V995A probably damaging Het
Hecw2 T C 1: 53,867,040 (GRCm39) probably benign Het
Hydin C A 8: 111,296,434 (GRCm39) N3654K possibly damaging Het
Inpp5b A G 4: 124,678,168 (GRCm39) Y440C possibly damaging Het
Or4a47 A T 2: 89,665,802 (GRCm39) Y162* probably null Het
Pphln1 A G 15: 93,363,091 (GRCm39) K306E probably damaging Het
Rnf26 A C 9: 44,024,156 (GRCm39) S31A probably benign Het
Ros1 A T 10: 52,001,907 (GRCm39) S1072T probably benign Het
Skic2 A G 17: 35,065,643 (GRCm39) W304R probably damaging Het
Slc22a14 A G 9: 119,007,579 (GRCm39) F277L possibly damaging Het
Tchh C T 3: 93,354,951 (GRCm39) L1464F unknown Het
Tmem260 C T 14: 48,715,093 (GRCm39) T249M probably damaging Het
Ttn A G 2: 76,804,409 (GRCm39) S288P probably damaging Het
Usp17lc A G 7: 103,068,148 (GRCm39) H481R possibly damaging Het
Vps50 C T 6: 3,602,670 (GRCm39) T929M probably benign Het
Zdhhc8 A G 16: 18,043,060 (GRCm39) L380P possibly damaging Het
Other mutations in Slc22a26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Slc22a26 APN 19 7,760,201 (GRCm39) missense probably damaging 0.99
IGL00736:Slc22a26 APN 19 7,767,527 (GRCm39) missense possibly damaging 0.50
IGL01085:Slc22a26 APN 19 7,767,464 (GRCm39) missense probably benign 0.02
IGL01581:Slc22a26 APN 19 7,779,549 (GRCm39) missense probably benign 0.15
IGL02502:Slc22a26 APN 19 7,768,125 (GRCm39) critical splice donor site probably null
IGL02658:Slc22a26 APN 19 7,765,613 (GRCm39) missense probably benign 0.25
IGL02936:Slc22a26 APN 19 7,768,470 (GRCm39) missense probably damaging 0.99
IGL03162:Slc22a26 APN 19 7,779,466 (GRCm39) missense probably benign 0.00
R0034:Slc22a26 UTSW 19 7,779,618 (GRCm39) missense probably benign 0.03
R0633:Slc22a26 UTSW 19 7,765,575 (GRCm39) critical splice donor site probably null
R0676:Slc22a26 UTSW 19 7,773,509 (GRCm39) splice site probably benign
R2156:Slc22a26 UTSW 19 7,779,480 (GRCm39) missense probably damaging 1.00
R4043:Slc22a26 UTSW 19 7,765,694 (GRCm39) critical splice acceptor site probably null
R4781:Slc22a26 UTSW 19 7,767,500 (GRCm39) missense probably benign 0.34
R4896:Slc22a26 UTSW 19 7,768,419 (GRCm39) missense probably benign 0.14
R4999:Slc22a26 UTSW 19 7,779,546 (GRCm39) missense probably damaging 1.00
R5125:Slc22a26 UTSW 19 7,767,540 (GRCm39) missense possibly damaging 0.62
R5178:Slc22a26 UTSW 19 7,767,540 (GRCm39) missense possibly damaging 0.62
R6161:Slc22a26 UTSW 19 7,763,812 (GRCm39) missense possibly damaging 0.50
R6494:Slc22a26 UTSW 19 7,779,651 (GRCm39) missense probably damaging 1.00
R6512:Slc22a26 UTSW 19 7,779,865 (GRCm39) start gained probably benign
R6724:Slc22a26 UTSW 19 7,779,726 (GRCm39) missense probably benign 0.14
R7323:Slc22a26 UTSW 19 7,768,259 (GRCm39) missense probably damaging 0.97
R7375:Slc22a26 UTSW 19 7,760,509 (GRCm39) splice site probably null
R7558:Slc22a26 UTSW 19 7,762,651 (GRCm39) missense possibly damaging 0.94
R7634:Slc22a26 UTSW 19 7,779,952 (GRCm39) splice site probably null
R8772:Slc22a26 UTSW 19 7,767,477 (GRCm39) missense probably benign 0.27
R8905:Slc22a26 UTSW 19 7,760,331 (GRCm39) missense probably damaging 0.97
R8937:Slc22a26 UTSW 19 7,768,390 (GRCm39) splice site probably benign
R9059:Slc22a26 UTSW 19 7,762,559 (GRCm39) missense probably benign 0.01
R9659:Slc22a26 UTSW 19 7,763,798 (GRCm39) missense probably benign 0.02
R9788:Slc22a26 UTSW 19 7,763,798 (GRCm39) missense probably benign 0.02
Posted On 2012-04-20